Results 11 to 20 of about 10,813 (223)

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia

open access: goldOrphanet Journal of Rare Diseases
Background Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA ...
I.-Chih Ling   +5 more
doaj   +2 more sources

Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet

open access: yesFrontiers in Pediatrics, 2022
Methylmalonic acidemia is a rare autosomal recessive metabolic disease. However, because of the atypical clinical symptoms, the type of late-onset methylmalonic academia is often misdiagnosed.
Bei Xu   +5 more
doaj   +1 more source

Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid

open access: yesFrontiers in Pediatrics, 2022
Methylmalonic acidaemia (MMA) and ornithine transcarbamylase deficiency (OTCD) are both intoxication-type inborn errors of metabolism (IEM). Presently, genetic testing is the primary method for prenatally diagnosing these diseases.
Congcong Shi   +5 more
doaj   +1 more source

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